Congenital diaphragmatic hernia
ORPHA:2140· ICD-10 Q79.0
Definition
A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic malformation characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension.
- Prevalence
- 1-5 / 10 000
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Neonatal